holoprosencephaly 12

A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gen

A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21.

Signs and symptoms

• Type I diabetes mellitus
• Pancreatic aplasia
• Agenesis of corpus callosum
• Absent gallbladder
• Exocrine pancreatic insufficiency
• Small for gestational age
• Intrauterine growth retardation
• Low-set ears
• Epicanthus
• Long philtrum

Also known as: holoprosencephaly-12 with or without pancreatic agenesis